Have questions? Visit https://www.reddit.com/r/SNPedia

rs273898681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GAAAAAGAAGAGAA) 6 BRCA1 variant considered pathogenic for breast cancer
(GAAAAAGAAGAGAA;GAAAAAGAAGAGAA) 0 common in clinvar


Make rs273898681(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093330
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273898681
ClinGenrs273898681
ebirs273898681
HLIrs273898681
Exacrs273898681
Varsomers273898681
Maprs273898681
PheGenIrs273898681
hapmaprs273898681
1000 genomesrs273898681
hgdprs273898681
ensemblrs273898681
gopubmedrs273898681
geneviewrs273898681
scholarrs273898681
googlers273898681
pharmgkbrs273898681
gwascentralrs273898681
openSNPrs273898681
23andMers273898681
23andMe allrs273898681
SNP Nexus

SNPshotrs273898681
SNPdbers273898681
MSV3drs273898681
GWAS Ctlgrs273898681
Max Magnitude6
rs273898681, also known as 2307del14, c.2188_2201delGAAAAAGAAGAGAA and p.Glu730_Lys734?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk
Alt
Reference Rs273898681(GAAAAAGAAGAGAA;GAAAAAGAAGAGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245347_41245360delTTCTCTTCTTTTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047748.2, RCV000111784.3,